Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4672931017 | SSM (seizures, scoliosis, macrocephaly) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4672932012 | Seizures, scoliosis, macrocephaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4672933019 | Seizures, scoliosis, macrocephaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4672934013 | A rare genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4672935014 | A rare genetic neurometabolic disorder characterised by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhoea, gastro-oesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Is a | Macrocephaly (finding) | true | Inferred relationship | Some | ||
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Is a | Seizure disorder | true | Inferred relationship | Some | ||
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Is a | Carbohydrate-deficient glycoprotein syndrome | true | Inferred relationship | Some | ||
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Is a | Scoliosis deformity of spine | true | Inferred relationship | Some | ||
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 3 | |
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Interprets | Head circumference | true | Inferred relationship | Some | 2 | |
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 2 | |
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Finding site | Musculoskeletal structure of spine | true | Inferred relationship | Some | 1 | |
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Associated morphology | Lateral abnormal curvature | true | Inferred relationship | Some | 1 | |
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 6 | |
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 7 | |
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 7 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR